Enzyme Deficiencies and Steroidogenesis

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Questions and Answers

Which enzyme deficiency is associated with increased blood pressure?

  • 11beta-Hydroxylase (correct)
  • 17 Alpha-Hydroxylase (correct)
  • 21-Hydroxylase
  • All of the above

Which enzyme deficiency is characterized by a decrease in androstenedione levels?

  • 11beta-Hydroxylase
  • 17 Alpha-Hydroxylase (correct)
  • 21-Hydroxylase
  • None of the above

Which enzyme deficiency presents with severe hypertension and precocious puberty in childhood?

  • 11beta-Hydroxylase (correct)
  • 17 Alpha-Hydroxylase
  • 21-Hydroxylase
  • All of the above

Individuals with 21-Hydroxylase deficiency often experience what symptom?

<p>Increased renin activity (B)</p> Signup and view all the answers

Which of the following is NOT a common presentation of 17 Alpha-Hydroxylase deficiency in females?

<p>Virilization (A)</p> Signup and view all the answers

What physiological response is observed with 11beta-Hydroxylase deficiency?

<p>Increased aldosterone levels (B)</p> Signup and view all the answers

Which presentation is common in individuals with 21-Hydroxylase deficiency?

<p>Salt wasting in infancy (C)</p> Signup and view all the answers

How does 17 Alpha-Hydroxylase deficiency affect potassium levels?

<p>Decreased potassium levels (D)</p> Signup and view all the answers

What hormone level is affected in 17 Alpha-Hydroxylase deficiency?

<p>Decreased sex hormones (C)</p> Signup and view all the answers

What laboratory change is typical for 21-Hydroxylase deficiency?

<p>Increased renin activity (A)</p> Signup and view all the answers

What effect does a deficiency in 11beta-Hydroxylase have on potassium levels?

<p>Decrease potassium levels (A)</p> Signup and view all the answers

Which of the following symptoms is most commonly associated with 21-Hydroxylase deficiency?

<p>Salt wasting in infancy (D)</p> Signup and view all the answers

In males with 17 Alpha-Hydroxylase deficiency, which condition is commonly observed?

<p>Lack of sexual development (C)</p> Signup and view all the answers

What is a notable laboratory change in patients with 21-Hydroxylase deficiency?

<p>Increased renin activity (C), Increased 17-hydroxyprogesterone (D)</p> Signup and view all the answers

What physiological change is typically observed in individuals with a deficiency in 17 Alpha-Hydroxylase?

<p>Decreased blood pressure (B)</p> Signup and view all the answers

Which enzyme deficiency is most common and presents with hypotension and salt wasting in infancy?

<p>21-Hydroxylase (C)</p> Signup and view all the answers

Which enzyme deficiency leads to an increase in 17-hydroxyprogesterone levels?

<p>21-Hydroxylase (C)</p> Signup and view all the answers

Which of the following is NOT a common presentation in females with 17 Alpha-Hydroxylase deficiency?

<p>Virilization (B)</p> Signup and view all the answers

Which enzyme deficiency is associated with increased renin activity and decreased blood pressure?

<p>21-Hydroxylase (C)</p> Signup and view all the answers

Which enzyme deficiency can present with precocious puberty in both males and females?

<p>11beta-Hydroxylase (A), 21-Hydroxylase (C)</p> Signup and view all the answers

What is the primary physiological change associated with 11beta-Hydroxylase deficiency?

<p>Increased mineralocorticoids (A)</p> Signup and view all the answers

Which presentation is expected in females with 21-Hydroxylase deficiency?

<p>Excess pubic hair (B)</p> Signup and view all the answers

How does 17 Alpha-Hydroxylase deficiency present in males?

<p>Normal genitalia and sexual development (B)</p> Signup and view all the answers

What laboratory change is typically observed in individuals with 17 Alpha-Hydroxylase deficiency?

<p>Decreased androstenedione levels (D)</p> Signup and view all the answers

What physiological parameter is typically decreased in individuals with 21-Hydroxylase deficiency?

<p>Mineralocorticoids levels (C)</p> Signup and view all the answers

What physiological consequence is directly linked to 11beta-Hydroxylase deficiency?

<p>Increased mineralocorticoids levels (D)</p> Signup and view all the answers

Which presentation is typical for individuals with a deficiency in 17 Alpha-Hydroxylase?

<p>Lack of sexual development and primary amenorrhea in females (C)</p> Signup and view all the answers

How does 21-Hydroxylase deficiency affect laboratory values?

<p>Increased levels of renin activity and 17-hydroxyprogesterone (A)</p> Signup and view all the answers

Which of the following is a characteristic change in individuals with 11beta-Hydroxylase deficiency?

<p>Increased aldosterone and decreased renin activity (C)</p> Signup and view all the answers

What abnormality is commonly observed in males with 21-Hydroxylase deficiency?

<p>Lack of sexual development (C)</p> Signup and view all the answers

Flashcards

11beta-Hydroxylase Deficiency

A condition where the body cannot produce sufficient aldosterone, leading to low blood pressure and high potassium levels.

17 Alpha-Hydroxylase Deficiency

A genetic disorder affecting steroid hormone production, leading to hypertension and a lack of sexual development.

21-Hydroxylase Deficiency

The most common enzyme deficiency in steroidogenesis, resulting in the production of inadequate cortisol and aldosterone.

Aldosterone

A hormone released by the adrenal glands, vital for maintaining blood pressure and regulating potassium levels.

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Cortisol

Hormones produced by the adrenal glands involved in stress response and regulating blood sugar levels.

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Mineralocorticoids (e.g., Aldosterone)

Hormones that regulate blood pressure and potassium levels.

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What is the effect of a 11beta-hydroxylase deficiency on blood pressure and potassium levels?

A deficiency in the enzyme 11beta-hydroxylase, which plays a crucial role in the creation of cortisol and aldosterone. This deficiency results in an excess of mineralocorticoids, leading to high blood pressure and low potassium levels. The deficiency also causes an increase in sex hormones, possibly causing precocious puberty and virilization in females.

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What is the effect of a 17 Alpha-hydroxylase deficiency on sexual development?

17 Alpha-hydroxylase deficiency is a genetic disorder that prevents the production of certain sex hormones, including testosterone and estradiol. This leads to a lack of sexual development, both in males and females, and causes an accumulation of mineralocorticoids, resulting in high blood pressure and low potassium levels.

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What is the most common enzyme deficiency in steroidogenesis and what are its effects?

21-hydroxylase deficiency is a common genetic disorder affecting the production of cortisol and aldosterone. This deficiency leads to a decrease in mineralocorticoids, causing low blood pressure and high potassium levels. There's also an increase in 17-hydroxyprogesterone, often causing precocious puberty in children and virilization in females.

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What is the role of 11beta-hydroxylase and what happens when it's deficient?

The enzyme 11beta-hydroxylase is involved in the production of cortisol and aldosterone, both crucial hormones. A deficiency in this enzyme leads to an overproduction of mineralocorticoids, causing high blood pressure and low potassium levels.

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What is the impact of 17 Alpha-hydroxylase deficiency on hormone production and sexual development?

The deficiency in 17 Alpha-hydroxylase results in a lack of key sex hormones, impacting sexual development and causing complications like lack of sexual development and hypertension.

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What is 11beta-Hydroxylase deficiency?

A genetic disorder where the body cannot produce sufficient aldosterone, leading to low blood pressure and high potassium levels. This deficiency also causes an increase in sex hormones, potentially causing precocious puberty and virilization in females.

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What is 17 Alpha-Hydroxylase deficiency?

A genetic disorder that disrupts the production of certain sex hormones, impacting sexual development. It also leads to an increase in mineralocorticoids (like aldosterone), which can lead to high blood pressure and low potassium levels.

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What is 21-Hydroxylase deficiency?

The most common genetic disorder impacting steroid hormone production in the body. This deficiency leads to a decrease in mineralocorticoids and cortisol, causing low blood pressure and high potassium levels. It also often causes an increase in 17-hydroxyprogesterone, potentially resulting in precocious puberty in children and virilization in females.

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What is aldosterone?

A hormone central to regulating blood pressure and potassium levels in the body. It is produced by the adrenal glands.

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What is cortisol?

A hormone secreted by the adrenal glands, mainly in response to stress. It plays roles in regulating blood sugar levels and controlling inflammation.

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What are mineralocorticoids?

Hormones that play a crucial role in regulating blood pressure and potassium levels.

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What are the effects of 11beta-hydroxylase deficiency?

A deficiency in the enzyme 11beta-hydroxylase leads to increased aldosterone production, resulting in high blood pressure and low potassium levels. It also causes an increase in sex hormones, leading to possible precocious puberty and virilization in females.

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What are the effects of 17 Alpha-hydroxylase deficiency?

A deficiency in 17 Alpha-hydroxylase prevents the production of essential sex hormones like testosterone and estradiol. This leads to a lack of sexual development in both males and females and causes an accumulation of mineralocorticoids, leading to high blood pressure and low potassium levels.

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What are the effects of 21-hydroxylase deficiency?

A deficiency in the enzyme 21-hydroxylase results in decreased cortisol and aldosterone production, leading to low blood pressure and high potassium levels. Additionally, there is an increase in 17-hydroxyprogesterone, which can cause precocious puberty in children and virilization in females.

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How does 11beta-hydroxylase deficiency affect mineralocorticoids?

A deficiency in the enzyme 11beta-hydroxylase affects the production of cortisol and aldosterone. This deficiency leads to increased mineralocorticoid levels, resulting in high blood pressure and low potassium levels.

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How does 17 Alpha-hydroxylase deficiency impact sexual development and mineralocorticoids?

A deficiency in 17 Alpha-hydroxylase disrupts the production of sex hormones, leading to a lack of sexual development in both males and females. This deficiency also causes a buildup of mineralocorticoids, resulting in high blood pressure and low potassium levels.

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Study Notes

Enzyme Deficiencies and Steroidogenesis

  • 11beta-Hydroxylase Deficiency:

    • Mineralocorticoids (Aldosterone) are increased
    • 11-deoxycorticosterone is decreased
    • Aldosterone is decreased
    • Potassium (K+) is decreased
    • Blood pressure is increased
    • Sex hormones are increased
    • Renin activity is decreased
    • Presentation: Severe hypertension; presents in childhood (precocious puberty); virilization in females (excess androgens)
  • 17 Alpha-Hydroxylase Deficiency:

    • Mineralocorticoids (Aldosterone) are increased
    • Potassium (K+) is decreased
    • Blood pressure is increased
    • Sex hormones are decreased
    • Androstenedione (precursor to testosterone and estrogens) is decreased
    • Presentation: Severe hypertension; lack of sexual development (low pubic hair), primary amenorrhea in females; normal genitalia in females and males lack sexual development
  • 21-Hydroxylase Deficiency:

    • Mineralocorticoids (Aldosterone) is decreased
    • Potassium (K+) is increased
    • Blood pressure is decreased
    • Sex hormones are increased
    • Renin activity is increased
    • 17-hydroxyprogesterone is increased
    • Presentation: Most common; hypotension; presents in infancy with salt wasting; childhood (precocious puberty); virilization in females (excess androgens)

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